Article
Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation.
Internal medicine (Tokyo, Japan) - 1 Jan 2000
Yakushiji Hiromasa, Kaji Arito, Suzuki Keitarou, Yamada Motohiro, Horiuchi Takahiko, Sinozaki Masahiro
Abstract excerpt
We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient's C1-INH gene. We determined that the patient was heterozygous for a single...
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